Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.62995988C=CA1978013106SLC22A8c.885+41G= (n.885+41G=)
c.516+41G= (n.516+41G=)
n.744G=
c.612+41G= (n.612+41G=)
11g.62995988C>TCA6059802SLC22A8c.885+41G>A (n.885+41G>A)
c.516+41G>A (n.516+41G>A)
n.744G>A
c.612+41G>A (n.612+41G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.62995989A=CA1978013111SLC22A8c.885+40T= (n.885+40T=)
c.516+40T= (n.516+40T=)
n.743T=
c.612+40T= (n.612+40T=)
11g.62995989A>TCA223623742SLC22A8c.885+40T>A (n.885+40T>A)
c.516+40T>A (n.516+40T>A)
n.743T>A
c.612+40T>A (n.612+40T>A)
 dbSNP
11g.62995990C=CA1978013113SLC22A8c.885+39G= (n.885+39G=)
c.516+39G= (n.516+39G=)
n.742G=
c.612+39G= (n.612+39G=)
11g.62995990C>GCA2614035265SLC22A8c.885+39G>C (n.885+39G>C)
c.516+39G>C (n.516+39G>C)
n.742G>C
c.612+39G>C (n.612+39G>C)
 gnomAD v4
11g.62995990C>TCA679094499SLC22A8c.885+39G>A (n.885+39G>A)
c.516+39G>A (n.516+39G>A)
n.742G>A
c.612+39G>A (n.612+39G>A)
 dbSNP gnomAD v3 gnomAD v4
11g.62995991A=CA1978013115SLC22A8c.885+38T= (n.885+38T=)
c.516+38T= (n.516+38T=)
n.741T=
c.612+38T= (n.612+38T=)
11g.62995991A>GCA223623743SLC22A8c.885+38T>C (n.885+38T>C)
c.516+38T>C (n.516+38T>C)
n.741T>C
c.612+38T>C (n.612+38T>C)
 dbSNP gnomAD v2 gnomAD v4
11g.62995992G>ACA1978013119SLC22A8c.885+37C>T (n.885+37C>T)
c.516+37C>T (n.516+37C>T)
n.740C>T
c.612+37C>T (n.612+37C>T)
 dbSNP
11g.62995992G=CA1978013118SLC22A8c.885+37C= (n.885+37C=)
c.516+37C= (n.516+37C=)
n.740C=
c.612+37C= (n.612+37C=)
11g.62995993G>ACA2614035266SLC22A8c.885+36C>T (n.885+36C>T)
c.516+36C>T (n.516+36C>T)
n.739C>T
c.612+36C>T (n.612+36C>T)
 gnomAD v4
11g.62995994G>ACA2614035267SLC22A8c.885+35C>T (n.885+35C>T)
c.516+35C>T (n.516+35C>T)
n.738C>T
c.612+35C>T (n.612+35C>T)
 gnomAD v4
11g.62995994G>CCA599799181SLC22A8c.885+35C>G (n.885+35C>G)
c.516+35C>G (n.516+35C>G)
n.738C>G
c.612+35C>G (n.612+35C>G)
 dbSNP gnomAD v2 gnomAD v4
11g.62995994G=CA1978013120SLC22A8c.885+35C= (n.885+35C=)
c.516+35C= (n.516+35C=)
n.738C=
c.612+35C= (n.612+35C=)
11g.62995994G>TCA1978013122SLC22A8c.885+35C>A (n.885+35C>A)
c.516+35C>A (n.516+35C>A)
n.738C>A
c.612+35C>A (n.612+35C>A)
 dbSNP gnomAD v4
11g.62995995G>ACA599799182SLC22A8c.885+34C>T (n.885+34C>T)
c.516+34C>T (n.516+34C>T)
n.737C>T
c.612+34C>T (n.612+34C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.62995995G>CCA2614035268SLC22A8c.885+34C>G (n.885+34C>G)
c.516+34C>G (n.516+34C>G)
n.737C>G
c.612+34C>G (n.612+34C>G)
 gnomAD v4
11g.62995995G=CA1978013125SLC22A8c.885+34C= (n.885+34C=)
c.516+34C= (n.516+34C=)
n.737C=
c.612+34C= (n.612+34C=)
11g.62995995G>TCA223623744SLC22A8c.885+34C>A (n.885+34C>A)
c.516+34C>A (n.516+34C>A)
n.737C>A
c.612+34C>A (n.612+34C>A)
 dbSNP
11g.62995996T>ACA1978013132SLC22A8c.885+33A>T (n.885+33A>T)
c.516+33A>T (n.516+33A>T)
n.736A>T
c.612+33A>T (n.612+33A>T)
 dbSNP gnomAD v4
11g.62995996T>CCA6059803SLC22A8c.885+33A>G (n.885+33A>G)
c.516+33A>G (n.516+33A>G)
n.736A>G
c.612+33A>G (n.612+33A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.62995996T=CA1978013130SLC22A8c.885+33A= (n.885+33A=)
c.516+33A= (n.516+33A=)
n.736A=
c.612+33A= (n.612+33A=)
11g.62995999T>CCA2614035269SLC22A8c.885+30A>G (n.885+30A>G)
c.516+30A>G (n.516+30A>G)
n.733A>G
c.612+30A>G (n.612+30A>G)
 gnomAD v4
11g.62996000G=CA1978013134SLC22A8c.885+29C= (n.885+29C=)
c.516+29C= (n.516+29C=)
n.732C=
c.612+29C= (n.612+29C=)
11g.62996000G>TCA6059804SLC22A8c.885+29C>A (n.885+29C>A)
c.516+29C>A (n.516+29C>A)
n.732C>A
c.612+29C>A (n.612+29C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.62996001C=CA1978013138SLC22A8c.885+28G= (n.885+28G=)
c.516+28G= (n.516+28G=)
n.731G=
c.612+28G= (n.612+28G=)
11g.62996001C>TCA6059805SLC22A8c.885+28G>A (n.885+28G>A)
c.516+28G>A (n.516+28G>A)
n.731G>A
c.612+28G>A (n.612+28G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.62996002T>CCA6059806SLC22A8c.885+27A>G (n.885+27A>G)
c.516+27A>G (n.516+27A>G)
n.730A>G
c.612+27A>G (n.612+27A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.62996002T=CA1978013140SLC22A8c.885+27A= (n.885+27A=)
c.516+27A= (n.516+27A=)
n.730A=
c.612+27A= (n.612+27A=)
11g.62996003C=CA1978013143SLC22A8c.885+26G= (n.885+26G=)
c.516+26G= (n.516+26G=)
n.729G=
c.612+26G= (n.612+26G=)
11g.62996003C>TCA223623754SLC22A8c.885+26G>A (n.885+26G>A)
c.516+26G>A (n.516+26G>A)
n.729G>A
c.612+26G>A (n.612+26G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.62996005C=CA1978013145SLC22A8c.885+24G= (n.885+24G=)
c.516+24G= (n.516+24G=)
n.727G=
c.612+24G= (n.612+24G=)
11g.62996005C>TCA6059807SLC22A8c.885+24G>A (n.885+24G>A)
c.516+24G>A (n.516+24G>A)
n.727G>A
c.612+24G>A (n.612+24G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.62996008A>GCA2614035270SLC22A8c.885+21T>C (n.885+21T>C)
c.516+21T>C (n.516+21T>C)
n.724T>C
c.612+21T>C (n.612+21T>C)
 gnomAD v4
11g.62996008A>TCA2614035271SLC22A8c.885+21T>A (n.885+21T>A)
c.516+21T>A (n.516+21T>A)
n.724T>A
c.612+21T>A (n.612+21T>A)
 gnomAD v4
11g.62996009C=CA1978013147SLC22A8c.885+20G= (n.885+20G=)
c.516+20G= (n.516+20G=)
n.723G=
c.612+20G= (n.612+20G=)
11g.62996009C>TCA6059808SLC22A8c.885+20G>A (n.885+20G>A)
c.516+20G>A (n.516+20G>A)
n.723G>A
c.612+20G>A (n.612+20G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.62996010T>CCA223623773SLC22A8c.885+19A>G (n.885+19A>G)
c.516+19A>G (n.516+19A>G)
n.722A>G
c.612+19A>G (n.612+19A>G)
 dbSNP gnomAD v2 gnomAD v4
11g.62996010T=CA1978013149SLC22A8c.885+19A= (n.885+19A=)
c.516+19A= (n.516+19A=)
n.722A=
c.612+19A= (n.612+19A=)
11g.62996011A=CA1978013151SLC22A8c.885+18T= (n.885+18T=)
c.516+18T= (n.516+18T=)
n.721T=
c.612+18T= (n.612+18T=)
11g.62996011A>GCA6059809SLC22A8c.885+18T>C (n.885+18T>C)
c.516+18T>C (n.516+18T>C)
n.721T>C
c.612+18T>C (n.612+18T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.62996012T>CCA6059810SLC22A8c.885+17A>G (n.885+17A>G)
c.516+17A>G (n.516+17A>G)
n.720A>G
c.612+17A>G (n.612+17A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.62996012T=CA1978013153SLC22A8c.885+17A= (n.885+17A=)
c.516+17A= (n.516+17A=)
n.720A=
c.612+17A= (n.612+17A=)
11g.62996013A>CCA2614035272SLC22A8c.885+16T>G (n.885+16T>G)
c.516+16T>G (n.516+16T>G)
n.719T>G
c.612+16T>G (n.612+16T>G)
 gnomAD v4
11g.62996016C>ACA6059811SLC22A8c.885+13G>T (n.885+13G>T)
c.516+13G>T (n.516+13G>T)
n.716G>T
c.612+13G>T (n.612+13G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.62996016C=CA1978013157SLC22A8c.885+13G= (n.885+13G=)
c.516+13G= (n.516+13G=)
n.716G=
c.612+13G= (n.612+13G=)
11g.62996016C>GCA1978013155SLC22A8c.885+13G>C (n.885+13G>C)
c.516+13G>C (n.516+13G>C)
n.716G>C
c.612+13G>C (n.612+13G>C)
 dbSNP
11g.62996017C>GCA2574853402SLC22A8c.885+12G>C (n.885+12G>C)
c.516+12G>C (n.516+12G>C)
n.715G>C
c.612+12G>C (n.612+12G>C)
 gnomAD v4
11g.62996018T>CCA223623784SLC22A8c.885+11A>G (n.885+11A>G)
c.516+11A>G (n.516+11A>G)
n.714A>G
c.612+11A>G (n.612+11A>G)
 dbSNP
11g.62996018T=CA1978013158SLC22A8c.885+11A= (n.885+11A=)
c.516+11A= (n.516+11A=)
n.714A=
c.612+11A= (n.612+11A=)
11g.62996019C>TCA2568274974SLC22A8c.885+10G>A (n.885+10G>A)
c.516+10G>A (n.516+10G>A)
n.713G>A
c.612+10G>A (n.612+10G>A)
 gnomAD v4
11g.62996021G>ACA2792364810SLC22A8c.885+8C>T (n.885+8C>T)
c.516+8C>T (n.516+8C>T)
n.711C>T
c.612+8C>T (n.612+8C>T)
11g.62996022C>ACA599799183SLC22A8c.885+7G>T (n.885+7G>T)
c.516+7G>T (n.516+7G>T)
n.710G>T
c.612+7G>T (n.612+7G>T)
 dbSNP gnomAD v2 gnomAD v4
11g.62996022C=CA1978013160SLC22A8c.885+7G= (n.885+7G=)
c.516+7G= (n.516+7G=)
n.710G=
c.612+7G= (n.612+7G=)
11g.62996024C>ACA6059812SLC22A8c.885+5G>T (n.885+5G>T)
c.516+5G>T (n.516+5G>T)
n.708G>T
c.612+5G>T (n.612+5G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.62996024C=CA1978013161SLC22A8c.885+5G= (n.885+5G=)
c.516+5G= (n.516+5G=)
n.708G=
c.612+5G= (n.612+5G=)
11g.62996025C=CA1978013164SLC22A8c.885+4G= (n.885+4G=)
c.516+4G= (n.516+4G=)
n.707G=
c.612+4G= (n.612+4G=)
11g.62996025C>GCA679094539SLC22A8c.885+4G>C (n.885+4G>C)
c.516+4G>C (n.516+4G>C)
n.707G>C
c.612+4G>C (n.612+4G>C)
 dbSNP
11g.62996026T>ACA679094540SLC22A8c.885+3A>T (n.885+3A>T)
c.516+3A>T (n.516+3A>T)
n.706A>T
c.612+3A>T (n.612+3A>T)
 dbSNP gnomAD v3 gnomAD v4
11g.62996026T>GCA2614035273SLC22A8c.885+3A>C (n.885+3A>C)
c.516+3A>C (n.516+3A>C)
n.706A>C
c.612+3A>C (n.612+3A>C)
 gnomAD v4
11g.62996026T=CA1978013165SLC22A8c.885+3A= (n.885+3A=)
c.516+3A= (n.516+3A=)
n.706A=
c.612+3A= (n.612+3A=)
11g.62996027A=CA1978013168SLC22A8c.885+2T= (n.885+2T=)
c.516+2T= (n.516+2T=)
n.705T=
c.612+2T= (n.612+2T=)
11g.62996027A>CCA380982441SLC22A8c.885+2T>G (n.885+2T>G)
c.516+2T>G (n.516+2T>G)
n.705T>G
c.612+2T>G (n.612+2T>G)
 dbSNP
11g.62996027A>GCA380982443SLC22A8c.885+2T>C (n.885+2T>C)
c.516+2T>C (n.516+2T>C)
n.705T>C
c.612+2T>C (n.612+2T>C)
11g.62996027A>TCA380982440SLC22A8c.885+2T>A (n.885+2T>A)
c.516+2T>A (n.516+2T>A)
n.705T>A
c.612+2T>A (n.612+2T>A)
11g.62996028C>ACA380982445SLC22A8c.885+1G>T (n.885+1G>T)
c.516+1G>T (n.516+1G>T)
n.704G>T
c.612+1G>T (n.612+1G>T)
 gnomAD v4
11g.62996028C>GCA380982447SLC22A8c.885+1G>C (n.885+1G>C)
c.516+1G>C (n.516+1G>C)
n.704G>C
c.612+1G>C (n.612+1G>C)
11g.62996028C>TCA380982448SLC22A8c.885+1G>A (n.885+1G>A)
c.516+1G>A (n.516+1G>A)
n.704G>A
c.612+1G>A (n.612+1G>A)
11g.62996029C>ACA380982449SLC22A8c.885G>T (p.Glu295Asp)
c.516G>T (p.Glu172Asp)
n.703G>T
c.612G>T (p.Glu204Asp)
11g.62996029C>GCA380982450SLC22A8c.885G>C (p.Glu295Asp)
c.516G>C (p.Glu172Asp)
n.703G>C
c.612G>C (p.Glu204Asp)
11g.62996029C>TCA475140786SLC22A8c.885G>A (p.Glu295=)
c.516G>A (p.Glu172=)
n.703G>A
c.612G>A (p.Glu204=)
11g.62996030T>ACA380982455SLC22A8c.884A>T (p.Glu295Val)
c.515A>T (p.Glu172Val)
n.702A>T
c.611A>T (p.Glu204Val)
11g.62996030T>CCA380982452SLC22A8c.884A>G (p.Glu295Gly)
c.515A>G (p.Glu172Gly)
n.702A>G
c.611A>G (p.Glu204Gly)
11g.62996030T>GCA380982453SLC22A8c.884A>C (p.Glu295Ala)
c.515A>C (p.Glu172Ala)
n.702A>C
c.611A>C (p.Glu204Ala)
 gnomAD v4
11g.62996031C>ACA380982456SLC22A8c.883G>T (p.Glu295Ter)
c.514G>T (p.Glu172Ter)
n.701G>T
c.610G>T (p.Glu204Ter)
11g.62996031C=CA1978013171SLC22A8c.883G= (p.Glu295=)
c.514G= (p.Glu172=)
n.701G=
c.610G= (p.Glu204=)
11g.62996031C>GCA380982457SLC22A8c.883G>C (p.Glu295Gln)
c.514G>C (p.Glu172Gln)
n.701G>C
c.610G>C (p.Glu204Gln)
 dbSNP gnomAD v2 gnomAD v4
11g.62996031C>TCA6059813SLC22A8c.883G>A (p.Glu295Lys)
c.514G>A (p.Glu172Lys)
n.701G>A
c.610G>A (p.Glu204Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.62996032C>ACA380982459SLC22A8c.882G>T (p.Leu294Phe)
c.513G>T (p.Leu171Phe)
n.700G>T
c.609G>T (p.Leu203Phe)
11g.62996032C>GCA380982461SLC22A8c.882G>C (p.Leu294Phe)
c.513G>C (p.Leu171Phe)
n.700G>C
c.609G>C (p.Leu203Phe)
11g.62996032C>TCA475140787SLC22A8c.882G>A (p.Leu294=)
c.513G>A (p.Leu171=)
n.700G>A
c.609G>A (p.Leu203=)
11g.62996033A>CCA380982466SLC22A8c.881T>G (p.Leu294Trp)
c.512T>G (p.Leu171Trp)
n.699T>G
c.608T>G (p.Leu203Trp)
11g.62996033A>GCA380982464SLC22A8c.881T>C (p.Leu294Ser)
c.512T>C (p.Leu171Ser)
n.699T>C
c.608T>C (p.Leu203Ser)
11g.62996033A>TCA380982462SLC22A8c.881T>A (p.Leu294Ter)
c.512T>A (p.Leu171Ter)
n.699T>A
c.608T>A (p.Leu203Ter)
11g.62996034A=CA1978013175SLC22A8c.880T= (p.Leu294=)
c.511T= (p.Leu171=)
n.698T=
c.607T= (p.Leu203=)
11g.62996034A>CCA380982468SLC22A8c.880T>G (p.Leu294Val)
c.511T>G (p.Leu171Val)
n.698T>G
c.607T>G (p.Leu203Val)
11g.62996034A>GCA6059814SLC22A8c.880T>C (p.Leu294=)
c.511T>C (p.Leu171=)
n.698T>C
c.607T>C (p.Leu203=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.62996034A>TCA380982470SLC22A8c.880T>A (p.Leu294Met)
c.511T>A (p.Leu171Met)
n.698T>A
c.607T>A (p.Leu203Met)
11g.62996035G>ACA475140788SLC22A8c.879C>T (p.Ser293=)
c.510C>T (p.Ser170=)
n.697C>T
c.606C>T (p.Ser202=)
 dbSNP gnomAD v2 gnomAD v4
11g.62996035G>CCA380982472SLC22A8c.879C>G (p.Ser293Arg)
c.510C>G (p.Ser170Arg)
n.697C>G
c.606C>G (p.Ser202Arg)
11g.62996035G=CA1978013177SLC22A8c.879C= (p.Ser293=)
c.510C= (p.Ser170=)
n.697C=
c.606C= (p.Ser202=)
11g.62996035G>TCA380982474SLC22A8c.879C>A (p.Ser293Arg)
c.510C>A (p.Ser170Arg)
n.697C>A
c.606C>A (p.Ser202Arg)
11g.62996036C>ACA380982476SLC22A8c.878G>T (p.Ser293Ile)
c.509G>T (p.Ser170Ile)
n.696G>T
c.605G>T (p.Ser202Ile)
11g.62996036C=CA1978013179SLC22A8c.878G= (p.Ser293=)
c.509G= (p.Ser170=)
n.696G=
c.605G= (p.Ser202=)
11g.62996036C>GCA380982478SLC22A8c.878G>C (p.Ser293Thr)
c.509G>C (p.Ser170Thr)
n.696G>C
c.605G>C (p.Ser202Thr)
11g.62996036C>TCA6059815SLC22A8c.878G>A (p.Ser293Asn)
c.509G>A (p.Ser170Asn)
n.696G>A
c.605G>A (p.Ser202Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.62996037T>ACA380982480SLC22A8c.877A>T (p.Ser293Cys)
c.508A>T (p.Ser170Cys)
n.695A>T
c.604A>T (p.Ser202Cys)
11g.62996037T>CCA380982482SLC22A8c.877A>G (p.Ser293Gly)
c.508A>G (p.Ser170Gly)
n.695A>G
c.604A>G (p.Ser202Gly)
11g.62996037T>GCA380982484SLC22A8c.877A>C (p.Ser293Arg)
c.508A>C (p.Ser170Arg)
n.695A>C
c.604A>C (p.Ser202Arg)
11g.62996038G>ACA475140789SLC22A8c.876C>T (p.Leu292=)
c.507C>T (p.Leu169=)
n.694C>T
c.603C>T (p.Leu201=)
11g.62996038G>CCA475140790SLC22A8c.876C>G (p.Leu292=)
c.507C>G (p.Leu169=)
n.694C>G
c.603C>G (p.Leu201=)
11g.62996038G>TCA475140791SLC22A8c.876C>A (p.Leu292=)
c.507C>A (p.Leu169=)
n.694C>A
c.603C>A (p.Leu201=)
11g.62996039A>CCA380982489SLC22A8c.875T>G (p.Leu292Arg)
c.506T>G (p.Leu169Arg)
n.693T>G
c.602T>G (p.Leu201Arg)
11g.62996039A>GCA380982486SLC22A8c.875T>C (p.Leu292Pro)
c.506T>C (p.Leu169Pro)
n.693T>C
c.602T>C (p.Leu201Pro)
11g.62996039A>TCA380982487SLC22A8c.875T>A (p.Leu292His)
c.506T>A (p.Leu169His)
n.693T>A
c.602T>A (p.Leu201His)
11g.62996040G>ACA380982491SLC22A8c.874C>T (p.Leu292Phe)
c.505C>T (p.Leu169Phe)
n.692C>T
c.601C>T (p.Leu201Phe)
11g.62996040G>CCA380982492SLC22A8c.874C>G (p.Leu292Val)
c.505C>G (p.Leu169Val)
n.692C>G
c.601C>G (p.Leu201Val)
11g.62996040G=CA1978013181SLC22A8c.874C= (p.Leu292=)
c.505C= (p.Leu169=)
n.692C=
c.601C= (p.Leu201=)
11g.62996040G>TCA6059816SLC22A8c.874C>A (p.Leu292Ile)
c.505C>A (p.Leu169Ile)
n.692C>A
c.601C>A (p.Leu201Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.62996041C>ACA223623839SLC22A8c.873G>T (p.Arg291Ser)
c.504G>T (p.Arg168Ser)
n.691G>T
c.600G>T (p.Arg200Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.62996041C=CA1978013183SLC22A8c.873G= (p.Arg291=)
c.504G= (p.Arg168=)
n.691G=
c.600G= (p.Arg200=)
11g.62996041C>GCA380982495SLC22A8c.873G>C (p.Arg291Ser)
c.504G>C (p.Arg168Ser)
n.691G>C
c.600G>C (p.Arg200Ser)
 dbSNP gnomAD v2 gnomAD v4
11g.62996041C>TCA475140792SLC22A8c.873G>A (p.Arg291=)
c.504G>A (p.Arg168=)
n.691G>A
c.600G>A (p.Arg200=)
11g.62996042C>ACA380982499SLC22A8c.872G>T (p.Arg291Met)
c.503G>T (p.Arg168Met)
n.690G>T
c.599G>T (p.Arg200Met)
11g.62996042C=CA1978013185SLC22A8c.872G= (p.Arg291=)
c.503G= (p.Arg168=)
n.690G=
c.599G= (p.Arg200=)
11g.62996042C>GCA6059817SLC22A8c.872G>C (p.Arg291Thr)
c.503G>C (p.Arg168Thr)
n.690G>C
c.599G>C (p.Arg200Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.62996042C>TCA380982497SLC22A8c.872G>A (p.Arg291Lys)
c.503G>A (p.Arg168Lys)
n.690G>A
c.599G>A (p.Arg200Lys)
 COSMIC
11g.62996043T>ACA380982501SLC22A8c.871A>T (p.Arg291Trp)
c.502A>T (p.Arg168Trp)
n.689A>T
c.598A>T (p.Arg200Trp)
11g.62996043T>CCA380982503SLC22A8c.871A>G (p.Arg291Gly)
c.502A>G (p.Arg168Gly)
n.689A>G
c.598A>G (p.Arg200Gly)
11g.62996043T>GCA475140793SLC22A8c.871A>C (p.Arg291=)
c.502A>C (p.Arg168=)
n.689A>C
c.598A>C (p.Arg200=)
11g.62996044T>ACA380982504SLC22A8c.870A>T (p.Glu290Asp)
c.501A>T (p.Glu167Asp)
n.688A>T
c.597A>T (p.Glu199Asp)
11g.62996044T>CCA475140794SLC22A8c.870A>G (p.Glu290=)
c.501A>G (p.Glu167=)
n.688A>G
c.597A>G (p.Glu199=)
11g.62996044T>GCA380982506SLC22A8c.870A>C (p.Glu290Asp)
c.501A>C (p.Glu167Asp)
n.688A>C
c.597A>C (p.Glu199Asp)
11g.62996045T>ACA380982508SLC22A8c.869A>T (p.Glu290Val)
c.500A>T (p.Glu167Val)
n.687A>T
c.596A>T (p.Glu199Val)
11g.62996045T>CCA380982510SLC22A8c.869A>G (p.Glu290Gly)
c.500A>G (p.Glu167Gly)
n.687A>G
c.596A>G (p.Glu199Gly)
11g.62996045T>GCA380982511SLC22A8c.869A>C (p.Glu290Ala)
c.500A>C (p.Glu167Ala)
n.687A>C
c.596A>C (p.Glu199Ala)
11g.62996046C>ACA380982514SLC22A8c.868G>T (p.Glu290Ter)
c.499G>T (p.Glu167Ter)
n.686G>T
c.595G>T (p.Glu199Ter)
11g.62996046C>GCA380982515SLC22A8c.868G>C (p.Glu290Gln)
c.499G>C (p.Glu167Gln)
n.686G>C
c.595G>C (p.Glu199Gln)
11g.62996046C>TCA380982517SLC22A8c.868G>A (p.Glu290Lys)
c.499G>A (p.Glu167Lys)
n.686G>A
c.595G>A (p.Glu199Lys)
11g.62996046_62996047delinsCTCA1978013187SLC22A8c.867_868delinsAG (p.Gly289=)
c.498_499delinsAG (p.Gly166=)
n.685_686delinsAG
c.594_595delinsAG (p.Gly198=)
11g.62996047delCA223623847SLC22A8c.867del (p.Glu290LysfsTer?)
c.498del (p.Glu167LysfsTer?)
n.685del
c.594del (p.Glu199LysfsTer?)
 dbSNP
11g.62996047T>ACA475140795SLC22A8c.867A>T (p.Gly289=)
c.498A>T (p.Gly166=)
n.685A>T
c.594A>T (p.Gly198=)
11g.62996047T>CCA475140796SLC22A8c.867A>G (p.Gly289=)
c.498A>G (p.Gly166=)
n.685A>G
c.594A>G (p.Gly198=)
 dbSNP gnomAD v3 gnomAD v4
11g.62996047T>GCA475140797SLC22A8c.867A>C (p.Gly289=)
c.498A>C (p.Gly166=)
n.685A>C
c.594A>C (p.Gly198=)
11g.62996047T=CA1978013189SLC22A8c.867A= (p.Gly289=)
c.498A= (p.Gly166=)
n.685A=
c.594A= (p.Gly198=)
11g.62996048C>ACA380982519SLC22A8c.866G>T (p.Gly289Val)
c.497G>T (p.Gly166Val)
n.684G>T
c.593G>T (p.Gly198Val)
 dbSNP gnomAD v4
11g.62996048C=CA1978013191SLC22A8c.866G= (p.Gly289=)
c.497G= (p.Gly166=)
n.684G=
c.593G= (p.Gly198=)
11g.62996048C>GCA223623862SLC22A8c.866G>C (p.Gly289Ala)
c.497G>C (p.Gly166Ala)
n.684G>C
c.593G>C (p.Gly198Ala)
 dbSNP
11g.62996048C>TCA380982521SLC22A8c.866G>A (p.Gly289Glu)
c.497G>A (p.Gly166Glu)
n.684G>A
c.593G>A (p.Gly198Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.62996050delCA2614035274SLC22A8c.866del (p.Gly289GlufsTer?)
c.497del (p.Gly166GlufsTer?)
n.684del
c.593del (p.Gly198GlufsTer?)
 gnomAD v4
11g.62996049C>ACA380982523SLC22A8c.865G>T (p.Gly289Ter)
c.496G>T (p.Gly166Ter)
n.683G>T
c.592G>T (p.Gly198Ter)
11g.62996049C=CA1978013194SLC22A8c.865G= (p.Gly289=)
c.496G= (p.Gly166=)
n.683G=
c.592G= (p.Gly198=)
11g.62996049C>GCA380982527SLC22A8c.865G>C (p.Gly289Arg)
c.496G>C (p.Gly166Arg)
n.683G>C
c.592G>C (p.Gly198Arg)
11g.62996049C>TCA380982526SLC22A8c.865G>A (p.Gly289Arg)
c.496G>A (p.Gly166Arg)
n.683G>A
c.592G>A (p.Gly198Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.62996050C>ACA380982528SLC22A8c.864G>T (p.Glu288Asp)
c.495G>T (p.Glu165Asp)
n.682G>T
c.591G>T (p.Glu197Asp)
11g.62996050C>GCA380982529SLC22A8c.864G>C (p.Glu288Asp)
c.495G>C (p.Glu165Asp)
n.682G>C
c.591G>C (p.Glu197Asp)
11g.62996050C>TCA475140798SLC22A8c.864G>A (p.Glu288=)
c.495G>A (p.Glu165=)
n.682G>A
c.591G>A (p.Glu197=)
11g.62996051T>ACA380982531SLC22A8c.863A>T (p.Glu288Val)
c.494A>T (p.Glu165Val)
n.681A>T
c.590A>T (p.Glu197Val)
11g.62996051T>CCA380982533SLC22A8c.863A>G (p.Glu288Gly)
c.494A>G (p.Glu165Gly)
n.681A>G
c.590A>G (p.Glu197Gly)
11g.62996051T>GCA380982534SLC22A8c.863A>C (p.Glu288Ala)
c.494A>C (p.Glu165Ala)
n.681A>C
c.590A>C (p.Glu197Ala)
11g.62996053_62996055delCA2614035275SLC22A8c.861_863del (p.Glu288del)
c.492_494del (p.Glu165del)
n.679_681del
c.588_590del (p.Glu197del)
 gnomAD v4
11g.62996052C>ACA380982536SLC22A8c.862G>T (p.Glu288Ter)
c.493G>T (p.Glu165Ter)
n.680G>T
c.589G>T (p.Glu197Ter)
11g.62996052C>GCA380982537SLC22A8c.862G>C (p.Glu288Gln)
c.493G>C (p.Glu165Gln)
n.680G>C
c.589G>C (p.Glu197Gln)
11g.62996052C>TCA380982539SLC22A8c.862G>A (p.Glu288Lys)
c.493G>A (p.Glu165Lys)
n.680G>A
c.589G>A (p.Glu197Lys)
11g.62996053T>ACA380982541SLC22A8c.861A>T (p.Glu287Asp)
c.492A>T (p.Glu164Asp)
n.679A>T
c.588A>T (p.Glu196Asp)
11g.62996053T>CCA475140799SLC22A8c.861A>G (p.Glu287=)
c.492A>G (p.Glu164=)
n.679A>G
c.588A>G (p.Glu196=)
11g.62996053T>GCA380982543SLC22A8c.861A>C (p.Glu287Asp)
c.492A>C (p.Glu164Asp)
n.679A>C
c.588A>C (p.Glu196Asp)
11g.62996054T>ACA380982545SLC22A8c.860A>T (p.Glu287Val)
c.491A>T (p.Glu164Val)
n.678A>T
c.587A>T (p.Glu196Val)
11g.62996054T>CCA380982546SLC22A8c.860A>G (p.Glu287Gly)
c.491A>G (p.Glu164Gly)
n.678A>G
c.587A>G (p.Glu196Gly)
11g.62996054T>GCA380982548SLC22A8c.860A>C (p.Glu287Ala)
c.491A>C (p.Glu164Ala)
n.678A>C
c.587A>C (p.Glu196Ala)
11g.62996055C>ACA380982554SLC22A8c.859G>T (p.Glu287Ter)
c.490G>T (p.Glu164Ter)
n.677G>T
c.586G>T (p.Glu196Ter)
11g.62996055C=CA1978013196SLC22A8c.859G= (p.Glu287=)
c.490G= (p.Glu164=)
n.677G=
c.586G= (p.Glu196=)
11g.62996055C>GCA380982550SLC22A8c.859G>C (p.Glu287Gln)
c.490G>C (p.Glu164Gln)
n.677G>C
c.586G>C (p.Glu196Gln)
11g.62996055C>TCA380982551SLC22A8c.859G>A (p.Glu287Lys)
c.490G>A (p.Glu164Lys)
n.677G>A
c.586G>A (p.Glu196Lys)
 dbSNP gnomAD v2 gnomAD v4
11g.62996056C>ACA380982555SLC22A8c.858G>T (p.Lys286Asn)
c.489G>T (p.Lys163Asn)
n.676G>T
c.585G>T (p.Lys195Asn)
11g.62996056C>GCA380982557SLC22A8c.858G>C (p.Lys286Asn)
c.489G>C (p.Lys163Asn)
n.676G>C
c.585G>C (p.Lys195Asn)
11g.62996056C>TCA475140800SLC22A8c.858G>A (p.Lys286=)
c.489G>A (p.Lys163=)
n.676G>A
c.585G>A (p.Lys195=)
11g.62996057T>ACA380982559SLC22A8c.857A>T (p.Lys286Met)
c.488A>T (p.Lys163Met)
n.675A>T
c.584A>T (p.Lys195Met)
11g.62996057T>CCA380982560SLC22A8c.857A>G (p.Lys286Arg)
c.488A>G (p.Lys163Arg)
n.675A>G
c.584A>G (p.Lys195Arg)
11g.62996057T>GCA380982561SLC22A8c.857A>C (p.Lys286Thr)
c.488A>C (p.Lys163Thr)
n.675A>C
c.584A>C (p.Lys195Thr)
11g.62996058T>ACA380982562SLC22A8c.856A>T (p.Lys286Ter)
c.487A>T (p.Lys163Ter)
n.674A>T
c.583A>T (p.Lys195Ter)
11g.62996058T>CCA380982563SLC22A8c.856A>G (p.Lys286Glu)
c.487A>G (p.Lys163Glu)
n.674A>G
c.583A>G (p.Lys195Glu)
11g.62996058T>GCA380982565SLC22A8c.856A>C (p.Lys286Gln)
c.487A>C (p.Lys163Gln)
n.674A>C
c.583A>C (p.Lys195Gln)
11g.62996059C>ACA380982567SLC22A8c.855G>T (p.Lys285Asn)
c.486G>T (p.Lys162Asn)
n.673G>T
c.582G>T (p.Lys194Asn)
11g.62996059C=CA1978013198SLC22A8c.855G= (p.Lys285=)
c.486G= (p.Lys162=)
n.673G=
c.582G= (p.Lys194=)
11g.62996059C>GCA380982569SLC22A8c.855G>C (p.Lys285Asn)
c.486G>C (p.Lys162Asn)
n.673G>C
c.582G>C (p.Lys194Asn)
11g.62996059C>TCA6059818SLC22A8c.855G>A (p.Lys285=)
c.486G>A (p.Lys162=)
n.673G>A
c.582G>A (p.Lys194=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.62996060T>ACA380982571SLC22A8c.854A>T (p.Lys285Met)
c.485A>T (p.Lys162Met)
n.672A>T
c.581A>T (p.Lys194Met)
11g.62996060T>CCA380982574SLC22A8c.854A>G (p.Lys285Arg)
c.485A>G (p.Lys162Arg)
n.672A>G
c.581A>G (p.Lys194Arg)
11g.62996060T>GCA380982572SLC22A8c.854A>C (p.Lys285Thr)
c.485A>C (p.Lys162Thr)
n.672A>C
c.581A>C (p.Lys194Thr)
11g.62996061T>ACA380982575SLC22A8c.853A>T (p.Lys285Ter)
c.484A>T (p.Lys162Ter)
n.671A>T
c.580A>T (p.Lys194Ter)
 dbSNP gnomAD v3 gnomAD v4
11g.62996061T>CCA380982576SLC22A8c.853A>G (p.Lys285Glu)
c.484A>G (p.Lys162Glu)
n.671A>G
c.580A>G (p.Lys194Glu)
11g.62996061T>GCA380982578SLC22A8c.853A>C (p.Lys285Gln)
c.484A>C (p.Lys162Gln)
n.671A>C
c.580A>C (p.Lys194Gln)
11g.62996061T=CA1978013199SLC22A8c.853A= (p.Lys285=)
c.484A= (p.Lys162=)
n.671A=
c.580A= (p.Lys194=)
11g.62996062G>ACA6059819SLC22A8c.852C>T (p.Gly284=)
c.483C>T (p.Gly161=)
n.670C>T
c.579C>T (p.Gly193=)
 dbSNP ExAC
11g.62996062G>CCA475140804SLC22A8c.852C>G (p.Gly284=)
c.483C>G (p.Gly161=)
n.670C>G
c.579C>G (p.Gly193=)
11g.62996062G=CA1978013201SLC22A8c.852C= (p.Gly284=)
c.483C= (p.Gly161=)
n.670C=
c.579C= (p.Gly193=)
11g.62996062G>TCA475140802SLC22A8c.852C>A (p.Gly284=)
c.483C>A (p.Gly161=)
n.670C>A
c.579C>A (p.Gly193=)
11g.62996063C>ACA380982581SLC22A8c.851G>T (p.Gly284Val)
c.482G>T (p.Gly161Val)
n.669G>T
c.578G>T (p.Gly193Val)
11g.62996063C>GCA380982582SLC22A8c.851G>C (p.Gly284Ala)
c.482G>C (p.Gly161Ala)
n.669G>C
c.578G>C (p.Gly193Ala)
11g.62996063C>TCA380982584SLC22A8c.851G>A (p.Gly284Asp)
c.482G>A (p.Gly161Asp)
n.669G>A
c.578G>A (p.Gly193Asp)
11g.62996064C>ACA380982590SLC22A8c.850G>T (p.Gly284Cys)
c.481G>T (p.Gly161Cys)
n.668G>T
c.577G>T (p.Gly193Cys)
11g.62996064C>GCA380982586SLC22A8c.850G>C (p.Gly284Arg)
c.481G>C (p.Gly161Arg)
n.668G>C
c.577G>C (p.Gly193Arg)
11g.62996064C>TCA380982588SLC22A8c.850G>A (p.Gly284Ser)
c.481G>A (p.Gly161Ser)
n.668G>A
c.577G>A (p.Gly193Ser)
 gnomAD v4
11g.62996065A=CA1978013203SLC22A8c.849T= (p.Asn283=)
c.480T= (p.Asn160=)
n.667T=
c.576T= (p.Asn192=)
11g.62996065A>CCA380982592SLC22A8c.849T>G (p.Asn283Lys)
c.480T>G (p.Asn160Lys)
n.667T>G
c.576T>G (p.Asn192Lys)
11g.62996065A>GCA475140807SLC22A8c.849T>C (p.Asn283=)
c.480T>C (p.Asn160=)
n.667T>C
c.576T>C (p.Asn192=)
 dbSNP gnomAD v2
11g.62996065A>TCA380982593SLC22A8c.849T>A (p.Asn283Lys)
c.480T>A (p.Asn160Lys)
n.667T>A
c.576T>A (p.Asn192Lys)
11g.62996066T>ACA380982594SLC22A8c.848A>T (p.Asn283Ile)
c.479A>T (p.Asn160Ile)
n.666A>T
c.575A>T (p.Asn192Ile)
11g.62996066T>CCA380982596SLC22A8c.848A>G (p.Asn283Ser)
c.479A>G (p.Asn160Ser)
n.666A>G
c.575A>G (p.Asn192Ser)
 dbSNP gnomAD v2 gnomAD v4
11g.62996066T>GCA380982598SLC22A8c.848A>C (p.Asn283Thr)
c.479A>C (p.Asn160Thr)
n.666A>C
c.575A>C (p.Asn192Thr)
11g.62996066T=CA1978013205SLC22A8c.848A= (p.Asn283=)
c.479A= (p.Asn160=)
n.666A=
c.575A= (p.Asn192=)
11g.62996067T>ACA380982600SLC22A8c.847A>T (p.Asn283Tyr)
c.478A>T (p.Asn160Tyr)
n.665A>T
c.574A>T (p.Asn192Tyr)
11g.62996067T>CCA6059820SLC22A8c.847A>G (p.Asn283Asp)
c.478A>G (p.Asn160Asp)
n.665A>G
c.574A>G (p.Asn192Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.62996067T>GCA380982601SLC22A8c.847A>C (p.Asn283His)
c.478A>C (p.Asn160His)
n.665A>C
c.574A>C (p.Asn192His)
11g.62996067T=CA1978013207SLC22A8c.847A= (p.Asn283=)
c.478A= (p.Asn160=)
n.665A=
c.574A= (p.Asn192=)
11g.62996068G>ACA475140809SLC22A8c.846C>T (p.Phe282=)
c.477C>T (p.Phe159=)
n.664C>T
c.573C>T (p.Phe191=)
11g.62996068G>CCA380982605SLC22A8c.846C>G (p.Phe282Leu)
c.477C>G (p.Phe159Leu)
n.664C>G
c.573C>G (p.Phe191Leu)
11g.62996068G>TCA380982606SLC22A8c.846C>A (p.Phe282Leu)
c.477C>A (p.Phe159Leu)
n.664C>A
c.573C>A (p.Phe191Leu)
11g.62996069A>CCA380982608SLC22A8c.845T>G (p.Phe282Cys)
c.476T>G (p.Phe159Cys)
n.663T>G
c.572T>G (p.Phe191Cys)
11g.62996069A>GCA380982610SLC22A8c.845T>C (p.Phe282Ser)
c.476T>C (p.Phe159Ser)
n.663T>C
c.572T>C (p.Phe191Ser)
 gnomAD v4
11g.62996069A>TCA380982611SLC22A8c.845T>A (p.Phe282Tyr)
c.476T>A (p.Phe159Tyr)
n.663T>A
c.572T>A (p.Phe191Tyr)
11g.62996070A=CA1978013209SLC22A8c.844T= (p.Phe282=)
c.475T= (p.Phe159=)
n.662T=
c.571T= (p.Phe191=)
11g.62996070A>CCA380982613SLC22A8c.844T>G (p.Phe282Val)
c.475T>G (p.Phe159Val)
n.662T>G
c.571T>G (p.Phe191Val)
11g.62996070A>GCA380982614SLC22A8c.844T>C (p.Phe282Leu)
c.475T>C (p.Phe159Leu)
n.662T>C
c.571T>C (p.Phe191Leu)
11g.62996070A>TCA6059821SLC22A8c.844T>A (p.Phe282Ile)
c.475T>A (p.Phe159Ile)
n.662T>A
c.571T>A (p.Phe191Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.62996071G>ACA475140810SLC22A8c.843C>T (p.Val281=)
c.474C>T (p.Val158=)
n.661C>T
c.570C>T (p.Val190=)
 dbSNP
11g.62996071G>CCA475140811SLC22A8c.843C>G (p.Val281=)
c.474C>G (p.Val158=)
n.661C>G
c.570C>G (p.Val190=)
11g.62996071G=CA1978013210SLC22A8c.843C= (p.Val281=)
c.474C= (p.Val158=)
n.661C=
c.570C= (p.Val190=)
11g.62996071G>TCA475140812SLC22A8c.843C>A (p.Val281=)
c.474C>A (p.Val158=)
n.661C>A
c.570C>A (p.Val190=)
11g.62996072A=CA1978013214SLC22A8c.842T= (p.Val281=)
c.473T= (p.Val158=)
n.660T=
c.569T= (p.Val190=)
11g.62996072A>CCA380982617SLC22A8c.842T>G (p.Val281Gly)
c.473T>G (p.Val158Gly)
n.660T>G
c.569T>G (p.Val190Gly)
11g.62996072A>GCA6059822SLC22A8c.842T>C (p.Val281Ala)
c.473T>C (p.Val158Ala)
n.660T>C
c.569T>C (p.Val190Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.62996072A>TCA380982619SLC22A8c.842T>A (p.Val281Asp)
c.473T>A (p.Val158Asp)
n.660T>A
c.569T>A (p.Val190Asp)
 dbSNP
11g.62996073C>ACA380982621SLC22A8c.841G>T (p.Val281Phe)
c.472G>T (p.Val158Phe)
n.659G>T
c.568G>T (p.Val190Phe)
11g.62996073C>GCA380982624SLC22A8c.841G>C (p.Val281Leu)
c.472G>C (p.Val158Leu)
n.659G>C
c.568G>C (p.Val190Leu)
11g.62996073C>TCA380982623SLC22A8c.841G>A (p.Val281Ile)
c.472G>A (p.Val158Ile)
n.659G>A
c.568G>A (p.Val190Ile)
11g.62996074A>CCA475140816SLC22A8c.840T>G (p.Ala280=)
c.471T>G (p.Ala157=)
n.658T>G
c.567T>G (p.Ala189=)
11g.62996074A>GCA475140819SLC22A8c.840T>C (p.Ala280=)
c.471T>C (p.Ala157=)
n.658T>C
c.567T>C (p.Ala189=)
11g.62996074A>TCA475140818SLC22A8c.840T>A (p.Ala280=)
c.471T>A (p.Ala157=)
n.658T>A
c.567T>A (p.Ala189=)
11g.62996075G>ACA223623895SLC22A8c.839C>T (p.Ala280Val)
c.470C>T (p.Ala157Val)
n.657C>T
c.566C>T (p.Ala189Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.62996075G>CCA380982627SLC22A8c.839C>G (p.Ala280Gly)
c.470C>G (p.Ala157Gly)
n.657C>G
c.566C>G (p.Ala189Gly)
11g.62996075G=CA1978013217SLC22A8c.839C= (p.Ala280=)
c.470C= (p.Ala157=)
n.657C=
c.566C= (p.Ala189=)
11g.62996075G>TCA380982628SLC22A8c.839C>A (p.Ala280Asp)
c.470C>A (p.Ala157Asp)
n.657C>A
c.566C>A (p.Ala189Asp)
11g.62996076C>ACA380982629SLC22A8c.838G>T (p.Ala280Ser)
c.469G>T (p.Ala157Ser)
n.656G>T
c.565G>T (p.Ala189Ser)
11g.62996076C=CA1978013219SLC22A8c.838G= (p.Ala280=)
c.469G= (p.Ala157=)
n.656G=
c.565G= (p.Ala189=)
11g.62996076C>GCA380982630SLC22A8c.838G>C (p.Ala280Pro)
c.469G>C (p.Ala157Pro)
n.656G>C
c.565G>C (p.Ala189Pro)
11g.62996076C>TCA380982632SLC22A8c.838G>A (p.Ala280Thr)
c.469G>A (p.Ala157Thr)
n.656G>A
c.565G>A (p.Ala189Thr)
11g.62996076_62996077insACA918896374SLC22A8c.837_838insT (p.Ala280CysfsTer?)
c.468_469insT (p.Ala157CysfsTer?)
n.655_656insT
c.564_565insT (p.Ala189CysfsTer?)
 dbSNP
11g.62996077C>ACA475140823SLC22A8c.837G>T (p.Val279=)
c.468G>T (p.Val156=)
n.655G>T
c.564G>T (p.Val188=)
11g.62996077C>GCA475140824SLC22A8c.837G>C (p.Val279=)
c.468G>C (p.Val156=)
n.655G>C
c.564G>C (p.Val188=)
11g.62996077C>TCA475140825SLC22A8c.837G>A (p.Val279=)
c.468G>A (p.Val156=)
n.655G>A
c.564G>A (p.Val188=)
11g.62996078A=CA1978013221SLC22A8c.836T= (p.Val279=)
c.467T= (p.Val156=)
n.654T=
c.563T= (p.Val188=)
11g.62996078A>CCA380982634SLC22A8c.836T>G (p.Val279Gly)
c.467T>G (p.Val156Gly)
n.654T>G
c.563T>G (p.Val188Gly)
 dbSNP
11g.62996078A>GCA380982636SLC22A8c.836T>C (p.Val279Ala)
c.467T>C (p.Val156Ala)
n.654T>C
c.563T>C (p.Val188Ala)
 gnomAD v4
11g.62996078A>TCA380982637SLC22A8c.836T>A (p.Val279Glu)
c.467T>A (p.Val156Glu)
n.654T>A
c.563T>A (p.Val188Glu)
11g.62996079C>ACA380982640SLC22A8c.835G>T (p.Val279Leu)
c.466G>T (p.Val156Leu)
n.653G>T
c.562G>T (p.Val188Leu)
11g.62996079C=CA1978013223SLC22A8c.835G= (p.Val279=)
c.466G= (p.Val156=)
n.653G=
c.562G= (p.Val188=)
11g.62996079C>GCA380982641SLC22A8c.835G>C (p.Val279Leu)
c.466G>C (p.Val156Leu)
n.653G>C
c.562G>C (p.Val188Leu)
11g.62996079C>TCA380982643SLC22A8c.835G>A (p.Val279Met)
c.466G>A (p.Val156Met)
n.653G>A
c.562G>A (p.Val188Met)
 dbSNP gnomAD v4 COSMIC
11g.62996081delCA2614035276SLC22A8c.835del (p.Val279TrpfsTer?)
c.466del (p.Val156TrpfsTer?)
n.653del
c.562del (p.Val188TrpfsTer?)
 gnomAD v4
11g.62996080C>ACA475140829SLC22A8c.834G>T (p.Arg278=)
c.465G>T (p.Arg155=)
n.652G>T
c.561G>T (p.Arg187=)
 dbSNP
11g.62996080C=CA1978013225SLC22A8c.834G= (p.Arg278=)
c.465G= (p.Arg155=)
n.652G=
c.561G= (p.Arg187=)
11g.62996080C>GCA475140830SLC22A8c.834G>C (p.Arg278=)
c.465G>C (p.Arg155=)
n.652G>C
c.561G>C (p.Arg187=)
11g.62996080C>TCA475140831SLC22A8c.834G>A (p.Arg278=)
c.465G>A (p.Arg155=)
n.652G>A
c.561G>A (p.Arg187=)
11g.62996081C>ACA380982647SLC22A8c.833G>T (p.Arg278Leu)
c.464G>T (p.Arg155Leu)
n.651G>T
c.560G>T (p.Arg187Leu)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
11g.62996081C=CA1978013227SLC22A8c.833G= (p.Arg278=)
c.464G= (p.Arg155=)
n.651G=
c.560G= (p.Arg187=)
11g.62996081C>GCA380982645SLC22A8c.833G>C (p.Arg278Pro)
c.464G>C (p.Arg155Pro)
n.651G>C
c.560G>C (p.Arg187Pro)
11g.62996081C>TCA223623896SLC22A8c.833G>A (p.Arg278Gln)
c.464G>A (p.Arg155Gln)
n.651G>A
c.560G>A (p.Arg187Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.62996082G>ACA223623901SLC22A8c.832C>T (p.Arg278Trp)
c.463C>T (p.Arg155Trp)
n.650C>T
c.559C>T (p.Arg187Trp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.62996082G>CCA380982649SLC22A8c.832C>G (p.Arg278Gly)
c.463C>G (p.Arg155Gly)
n.650C>G
c.559C>G (p.Arg187Gly)
11g.62996082G=CA1978013229SLC22A8c.832C= (p.Arg278=)
c.463C= (p.Arg155=)
n.650C=
c.559C= (p.Arg187=)
11g.62996082G>TCA475140835SLC22A8c.832C>A (p.Arg278=)
c.463C>A (p.Arg155=)
n.650C>A
c.559C>A (p.Arg187=)
11g.62996083C>ACA475140839SLC22A8c.831G>T (p.Arg277=)
c.462G>T (p.Arg154=)
n.649G>T
c.558G>T (p.Arg186=)
11g.62996083C>GCA475140837SLC22A8c.831G>C (p.Arg277=)
c.462G>C (p.Arg154=)
n.649G>C
c.558G>C (p.Arg186=)
11g.62996083C>TCA475140838SLC22A8c.831G>A (p.Arg277=)
c.462G>A (p.Arg154=)
n.649G>A
c.558G>A (p.Arg186=)
11g.62996084C>ACA380982651SLC22A8c.830G>T (p.Arg277Leu)
c.461G>T (p.Arg154Leu)
n.648G>T
c.557G>T (p.Arg186Leu)
11g.62996084C=CA1978013231SLC22A8c.830G= (p.Arg277=)
c.461G= (p.Arg154=)
n.648G=
c.557G= (p.Arg186=)
11g.62996084C>GCA380982653SLC22A8c.830G>C (p.Arg277Pro)
c.461G>C (p.Arg154Pro)
n.648G>C
c.557G>C (p.Arg186Pro)
11g.62996084C>TCA6059823SLC22A8c.830G>A (p.Arg277Gln)
c.461G>A (p.Arg154Gln)
n.648G>A
c.557G>A (p.Arg186Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.62996085G>ACA6059824SLC22A8c.829C>T (p.Arg277Trp)
c.460C>T (p.Arg154Trp)
n.647C>T
c.556C>T (p.Arg186Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.62996085G>CCA380982656SLC22A8c.829C>G (p.Arg277Gly)
c.460C>G (p.Arg154Gly)
n.647C>G
c.556C>G (p.Arg186Gly)
11g.62996085G=CA1978013233SLC22A8c.829C= (p.Arg277=)
c.460C= (p.Arg154=)
n.647C=
c.556C= (p.Arg186=)
11g.62996085G>TCA475140842SLC22A8c.829C>A (p.Arg277=)
c.460C>A (p.Arg154=)
n.647C>A
c.556C>A (p.Arg186=)
11g.62996085_62996086delinsAACA645575933SLC22A8c.828_829delinsTT (p.Arg277Trp)
c.459_460delinsTT (p.Arg154Trp)
n.646_647delinsTT
c.555_556delinsTT (p.Arg186Trp)
 COSMIC
11g.62996086G>ACA475140844SLC22A8c.828C>T (p.Leu276=)
c.459C>T (p.Leu153=)
n.646C>T
c.555C>T (p.Leu185=)
11g.62996086G>CCA475140845SLC22A8c.828C>G (p.Leu276=)
c.459C>G (p.Leu153=)
n.646C>G
c.555C>G (p.Leu185=)
11g.62996086G=CA1978013235SLC22A8c.828C= (p.Leu276=)
c.459C= (p.Leu153=)
n.646C=
c.555C= (p.Leu185=)
11g.62996086G>TCA6059825SLC22A8c.828C>A (p.Leu276=)
c.459C>A (p.Leu153=)
n.646C>A
c.555C>A (p.Leu185=)
 dbSNP ExAC
11g.62996087A>CCA380982659SLC22A8c.827T>G (p.Leu276Arg)
c.458T>G (p.Leu153Arg)
n.645T>G
c.554T>G (p.Leu185Arg)
11g.62996087A>GCA380982660SLC22A8c.827T>C (p.Leu276Pro)
c.458T>C (p.Leu153Pro)
n.645T>C
c.554T>C (p.Leu185Pro)
 gnomAD v4
11g.62996087A>TCA380982661SLC22A8c.827T>A (p.Leu276His)
c.458T>A (p.Leu153His)
n.645T>A
c.554T>A (p.Leu185His)
11g.62996088G>ACA380982665SLC22A8c.826C>T (p.Leu276Phe)
c.457C>T (p.Leu153Phe)
n.644C>T
c.553C>T (p.Leu185Phe)
 gnomAD v4
11g.62996088G>CCA380982666SLC22A8c.826C>G (p.Leu276Val)
c.457C>G (p.Leu153Val)
n.644C>G
c.553C>G (p.Leu185Val)
11g.62996088G>TCA380982663SLC22A8c.826C>A (p.Leu276Ile)
c.457C>A (p.Leu153Ile)
n.644C>A
c.553C>A (p.Leu185Ile)
 gnomAD v4

Number of alleles fetched